Incidental Mutation 'IGL02065:Ccdc57'
ID185600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc57
Ensembl Gene ENSMUSG00000048445
Gene Namecoiled-coil domain containing 57
Synonyms4933434G05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02065
Quality Score
Status
Chromosome11
Chromosomal Location120826529-120932872 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120873760 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 730 (T730A)
Ref Sequence ENSEMBL: ENSMUSP00000050996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056781]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056781
AA Change: T730A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050996
Gene: ENSMUSG00000048445
AA Change: T730A

DomainStartEndE-ValueType
coiled coil region 14 174 N/A INTRINSIC
coiled coil region 198 350 N/A INTRINSIC
low complexity region 356 365 N/A INTRINSIC
coiled coil region 380 489 N/A INTRINSIC
coiled coil region 519 548 N/A INTRINSIC
coiled coil region 575 607 N/A INTRINSIC
low complexity region 620 639 N/A INTRINSIC
internal_repeat_1 657 677 1.17e-5 PROSPERO
low complexity region 763 774 N/A INTRINSIC
low complexity region 787 798 N/A INTRINSIC
internal_repeat_1 863 883 1.17e-5 PROSPERO
low complexity region 915 923 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150640
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C T 17: 46,312,901 E770K possibly damaging Het
Abhd17a C A 10: 80,586,561 A22S probably benign Het
Actbl2 A G 13: 111,255,691 T187A probably benign Het
Adgrl3 G A 5: 81,512,217 G278R probably damaging Het
Apoh C A 11: 108,414,305 probably benign Het
Atp2b2 A G 6: 113,813,867 F192S probably damaging Het
Bdh1 T C 16: 31,449,936 I163T possibly damaging Het
Bmp1 G T 14: 70,486,220 N725K probably damaging Het
Bmp1 T A 14: 70,490,107 I679F probably damaging Het
Bmp2 T A 2: 133,560,924 F132I probably benign Het
Bpifb5 T C 2: 154,227,183 L140P probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Carmil3 T C 14: 55,493,822 probably benign Het
Cdh10 G T 15: 19,013,256 K647N probably damaging Het
Cdh17 A C 4: 11,771,373 probably benign Het
Cep126 A G 9: 8,099,924 S870P probably benign Het
Col6a4 T C 9: 106,077,103 T346A probably damaging Het
Csmd3 A C 15: 47,666,628 V2592G probably damaging Het
Dnajc16 A T 4: 141,776,933 F239I probably damaging Het
F5 G A 1: 164,190,126 V591M probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fchsd2 T G 7: 101,177,222 probably null Het
Flad1 A T 3: 89,408,987 D89E probably damaging Het
Fsd1 C A 17: 55,996,499 P457Q probably damaging Het
Gm21985 A G 2: 112,357,584 D1012G possibly damaging Het
Gon4l A G 3: 88,857,210 D366G probably null Het
Hadha A G 5: 30,142,845 probably benign Het
Kdr A G 5: 75,961,853 probably benign Het
Kyat3 A G 3: 142,720,375 K24R probably benign Het
Map3k21 A G 8: 125,941,658 D661G probably benign Het
Mical1 A T 10: 41,484,411 K615N possibly damaging Het
Ncor1 T C 11: 62,419,609 K204E possibly damaging Het
Nmral1 T A 16: 4,716,482 I32F probably benign Het
Nrros T C 16: 32,144,674 D175G possibly damaging Het
Olfr1329 G A 4: 118,916,771 T232I probably benign Het
Olfr536 T C 7: 140,504,164 I98M probably benign Het
Ryr2 A G 13: 11,572,257 F4713L possibly damaging Het
Serpinb1b G A 13: 33,091,318 G142D possibly damaging Het
Slc10a1 A G 12: 80,960,474 S178P possibly damaging Het
Spint1 G A 2: 119,238,217 R144H probably benign Het
Sult6b1 C T 17: 78,889,075 G213R probably damaging Het
Themis3 G T 17: 66,555,905 H353N probably benign Het
Tpr T C 1: 150,413,774 S619P probably benign Het
Ttn A T 2: 76,814,790 V11161E probably damaging Het
Usp13 G A 3: 32,933,165 V837I probably damaging Het
Usp25 T C 16: 77,083,782 V677A probably benign Het
Wdr62 A G 7: 30,243,469 V1001A possibly damaging Het
Whrn A T 4: 63,418,585 I580N possibly damaging Het
Wls T A 3: 159,911,356 V344D probably damaging Het
Zan A T 5: 137,386,960 Y5070* probably null Het
Other mutations in Ccdc57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ccdc57 APN 11 120860469 missense possibly damaging 0.94
IGL01069:Ccdc57 APN 11 120861259 missense probably benign 0.06
IGL02143:Ccdc57 APN 11 120861243 nonsense probably null
R0265:Ccdc57 UTSW 11 120921811 missense probably benign 0.00
R1184:Ccdc57 UTSW 11 120873811 splice site probably benign
R1792:Ccdc57 UTSW 11 120897881 missense possibly damaging 0.82
R1834:Ccdc57 UTSW 11 120861219 missense probably benign 0.07
R1852:Ccdc57 UTSW 11 120921673 missense probably damaging 0.98
R1914:Ccdc57 UTSW 11 120903308 splice site probably benign
R2146:Ccdc57 UTSW 11 120885225 splice site probably benign
R2341:Ccdc57 UTSW 11 120860523 missense probably benign 0.00
R3013:Ccdc57 UTSW 11 120861199 missense probably benign 0.01
R4798:Ccdc57 UTSW 11 120881857 missense possibly damaging 0.73
R4821:Ccdc57 UTSW 11 120860399 critical splice donor site probably null
R4869:Ccdc57 UTSW 11 120903518 splice site probably null
R4964:Ccdc57 UTSW 11 120861152 missense probably benign 0.17
R4966:Ccdc57 UTSW 11 120861152 missense probably benign 0.17
R5204:Ccdc57 UTSW 11 120886062 missense possibly damaging 0.73
R5993:Ccdc57 UTSW 11 120894724 missense possibly damaging 0.85
R6072:Ccdc57 UTSW 11 120902075 missense probably damaging 0.98
R6404:Ccdc57 UTSW 11 120894712 missense probably benign 0.10
R6877:Ccdc57 UTSW 11 120873702 missense probably benign 0.00
R7074:Ccdc57 UTSW 11 120903374 missense possibly damaging 0.94
R7102:Ccdc57 UTSW 11 120921731 nonsense probably null
R7311:Ccdc57 UTSW 11 120873741 missense probably benign
Posted On2014-05-07